Canonical Allele Identifier: CA364155835

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969762-C-G
• MyVariant Identifiers: chr6:g.42937500C>G (hg19) ; chr6:g.42969762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969762C>G , CM000668.2:g.42969762C>G	GRCh38
NC_000006.11:g.42937500C>G , CM000668.1:g.42937500C>G	GRCh37
NC_000006.10:g.43045478C>G	NCBI36
NG_008370.1:g.14482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1273G>C MANE Select	ENSP00000303511.8:p.Glu425Gln
ENST00000244546.4:c.1273G>C	ENSP00000244546.4:p.Glu425Gln
ENST00000304611.12:c.1273G>C	ENSP00000303511.8:p.Glu425Gln
NM_000287.3:c.1273G>C	NP_000278.3:p.Glu425Gln
NM_001316313.1:c.1009G>C	NP_001303242.1:p.Glu337Gln
NR_133009.1:n.1366G>C
XM_011514661.1:c.1189G>C	XP_011512963.1:p.Glu397Gln
XR_926246.1:n.1366G>C
XM_011514661.2:c.1189G>C	XP_011512963.1:p.Glu397Gln
XR_001743466.2:n.2347G>C
NM_000287.4:c.1273G>C MANE Select	NP_000278.3:p.Glu425Gln
NM_001316313.2:c.1009G>C	NP_001303242.1:p.Glu337Gln
NR_133009.2:n.1304G>C